FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 GeneticVariation disease CLINVAR
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 Biomarker disease CTD_human
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 CausalMutation disease CLINVAR
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 Biomarker disease GENOMICS_ENGLAND A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551 1995
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 Biomarker disease GENOMICS_ENGLAND FBN1 mutations in patients with descending thoracic aortic dissections. 20082464 2010
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 GeneticVariation disease UNIPROT Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes. 21683322 2011
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 GeneticVariation disease BEFREE Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes. 21683322 2011
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 GermlineCausalMutation disease ORPHANET Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes. 21683322 2011
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 Biomarker disease BEFREE These phenotypes provide evidence that missense mutations in exons 41 and 42 of FBN1 lead to MFS and WMS in addition to AD and GD and also suggest that all individuals with pathogenic FBN1 mutations in these exons should be assessed for thoracic aortic disease and ectopia lentis. 23897642 2013
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 Biomarker disease BEFREE Recently, we identified fibrillin 1 (FBN1) as the disease gene of AD. 24339047 2014
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 GeneticVariation disease BEFREE Mutations in FBN1 gene have been identified in AD, GD and WMS patients. 25142510 2014
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 GeneticVariation disease BEFREE FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome. 26875674 2016
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 Biomarker disease BEFREE Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. 27068007 2016
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 GeneticVariation disease BEFREE Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 27245183 2016
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 GeneticVariation disease BEFREE The genetic cause of AD and some cases of GD was shown to be mutations in the transforming growth factor (TGF) β-binding protein-like domain 5 of the fibrillin 1 gene (FBN1), which is also mutated in Marfan syndrome. 27935852 2017
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.790 GeneticVariation disease BEFREE Mutations of the Fibrillin-1 (FBN1) gene have been reported to cause AD, GD and related phenotypes. 29191498 2018